Results 91 to 100 of about 9,233 (239)

Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death

open access: yesInternational Journal of Genomics, Volume 2026, Issue 1, 2026.
Cellular action potential is characterized by a particular sequence of depolarizing and repolarizing ion currents regulated by ion channels. Genetic mutations in these channels disrupt the essential movement of ions, such as Na+, Ca++, and K+, across the cell membrane, leading to dangerous arrhythmias and sudden cardiac death (SCD).
Mahsa Tahmasebivand   +10 more
wiley   +1 more source

K⁺ チャネルを調節するKCNE1の頻度の多い遺伝子多型、G38Sの潜在的な病原性について [PDF]

open access: yes, 2013
富山大学・富医薬博甲第116号・山口由明・2013/09/27・★論文非公開 ...
山口 由明
core   +1 more source

Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update [PDF]

open access: yes, 2015
A prolonged QT interval is an important risk factor for ventricular arrhythmias and sudden cardiac death. QT prolongation can be caused by drugs. There are multiple risk factors for drug-induced QT prolongation, including genetic variation.
Berg, M.E. (Marten) van den   +4 more
core   +1 more source

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

open access: yesPhysiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri   +8 more
wiley   +1 more source

Congenital Short QT Syndrome [PDF]

open access: yes, 2004
Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval.
Antzelevitch, Charles, Francis, Johnson
core   +1 more source

SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY [PDF]

open access: yes, 2012
In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud-den arrhythmic death, opening the way to preventive action on victims ...
ARGO, Antonina   +4 more
core   +1 more source

Advances in Conductive Nanomaterials for Cardiac Arrhythmia and Future Directions in Bioevaluation Strategies

open access: yesAdvanced Healthcare Materials, Volume 14, Issue 31, December 8, 2025.
Conductive nanomaterials (CNMs) show promising potential in cardiac tissue regeneration and restoring cardiac rhythm as reported in several in vitro studies. This review article elaborates on the applications of CNMs in the treatment of myocardial infarction (MI) and MI‐induced cardiac arrhythmias, and it sheds light on the innovative approach of ...
Sumithra Y. Srinivasan, Anna Laromaine
wiley   +1 more source

Generation and characterization of an induced pluripotent stem cell (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient harbouring the KCNH2 c.2464G>A pathogenic variant

open access: yesStem Cell Research, 2020
Long QT syndrome (LQTS), an inherited cardiac ion channelopathy, is associated with ventricular arrhythmias and risk of sudden death. LQTS sub-type 2 (LQT2) is caused by pathogenic variants in KCNH2 encoding the α-subunit of Kv11.1, thus affecting the ...
Ning Ge   +7 more
doaj   +1 more source

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. [PDF]

open access: yes, 2019
BACKGROUND: We aimed to determine the mutation yield and clinical applicability of "molecular autopsy" following sudden arrhythmic death syndrome (SADS) by validating and utilizing low-cost high-throughput technologies: Fluidigm Access Array PCR ...
Arno, G   +17 more
core   +3 more sources

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

open access: yesAdvanced Science, Volume 12, Issue 45, December 4, 2025.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen   +23 more
wiley   +1 more source

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